Treacher Collins Syndrome
Franceschetti-Zwahlen-Klein syndrome, known as Treacher Collins Syndrome, is a genetic disorder characterized by craniofacial deformities. In every ten thousand births, there is at least one person who is born with this deformity. Edward Treacher Collins first explained this deformity in 1900 and it is named after him. Medical studies suggest that Treacher Collins Syndrome is inherited.
Treatment of Treacher Collins Syndrome
Treatment aims at addressing difficulties encountered in Treacher Collins Syndrome, such as feeding, hearing and breathing problems. In several cases, a tracheostomy, or ‘breathing hole’, is placed in the neck that allows the child to breathe, as the jaw may be very small and may pose breathing and feeding difficulties in newborns.
One in every ten children is born with this kind of birthmark, and between fifty and sixty percent of them usually require some form of treatment.
A newborn with Treacher Collins Syndrome can be treated with special feeding techniques and can be operated on a little later in life. Children suffering from Treacher Collins Syndrome also undergo multiple surgeries - including the reconstruction of the outer ear, repairing of eyelid deformities and cheekbone and jaw enhancement.
Pre-Natal Testing
Many parents choose to undergo prenatal testing. To detect Treacher Collins Syndrome, testing of fetal cells, amniotic fluid and amniotic membranes is conducted. Genetic counseling and prenatal diagnosis helps parents to make intelligent decisions regarding the pregnancy. .
If it is determined that a parent has a disposition toward Treacher Collins Syndrome, they may opt to use donated eggs and sperm in order to conceive. Pre-implantation is one of the latest techniques that incorporates invitro fertilization and genetic testing of the resulting embryos, before implanting those embryos that are not found to have the abnormal gene.
Medical Breakthroughs
A team of doctors in Kansas, Missouri has made a breakthrough in identifying the cellular origins of the craniofacial abnormalities occurring in Treacher Collins syndrome that include ear, nose, upper and lower lip abnormalities, including cleft palateIf it is determined that a parent has a disposition toward Treacher Collins Syndrome, they may opt to use donated eggs and sperm in order to conceive. Pre-implantation is one of the latest techniques that incorporates invitro fertilization and genetic testing of the resulting embryos, before implanting those embryos that are not found to have the abnormal gene.
The observations of the Proceedings of the National Academy of Sciences show that the craniofacial anomalies of Treacher Collins syndrome arise mainly due to the increased rate of cell death that leads to the inefficiency to produce sufficient neural crest cells. The team also discovered that a small amount of neural crest cells produced have compromised reproductive capacity.
When these findings are translated to human development within the first three to eight weeks of pregnancy, similar extensive cell death results with the inability to produce sufficient neural crest cells and ultimately leads to deformities like those found in Treacher Collins Syndrome.